Are ypu facing a difficult clinical situation ? Post the query on the forums.

  • Sharebar

WHIM SYNDROME

No replies
DR.BHAGYASHRI.LATTI's picture
Offline
Joined: 26 Sep 2010

[attachment=0]WHIM syndrome.docx[/attachment]

up
0 users have Like. User Likes
sushantpatel_doc's picture
Offline
Joined: 30 Nov 2009
Re: WHIM SYNDROME

WHIM Syndrome (or Warts, Hypogammaglobulinemia, Infections, and Myelokathexis syndrome) is a rare congenital immunodeficiency disorder characterized by chronic noncyclic neutropenia.

Diagnosis

Patients exhibit increased susceptibility to bacterial and viral infections, especially from common serotype human papilloma virus, resulting in warts on the hands and feet starting in childhood. Myelokathexis refers to retention (kathexis) of neutrophils in the bone marrow (myelo). In addition, lymphocytes and antibody levels (gammaglobulins) are often deficient.

Pathophysiology

WHIM syndrome has an autosomal dominant pattern of inheritance.
WHIM syndrome results from autosomal dominant mutations in the gene for the chemokine receptor, CXCR4, resulting in a carboxy-terminus truncation of the receptor of between ten and 19 residues. The gene mutant is located on 2q21. The truncation of the receptor protein results in the inability of downregulation after stimulation. Thus, the receptor remain in a activated state. WHIM syndrome is one of only a few diseases directly and primarily caused by an aberrant chemokine, making its molecular biology important in understanding the role of cell signaling and trafficking.
An association with GRK3 has also been observed.

up
0 users have Like. User Likes